NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser) AND Epidermolysis bullosa simplex
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001112089.4
Allele description [Variation Report for NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser)]
NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023